ADNP (Activity Dependent Neuroprotector Homeobox)
A key transcription factor and chromatin regulator involved in neurodevelopment, autism spectrum disorder, and Helsmoortel-Van der Aa syndrome.
Gene Information Card
| Symbol | ADNP |
|---|---|
| Full Name | Activity Dependent Neuroprotector Homeobox |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 23394 ncbi.nlm.nih.gov/gene/23394 |
| Ensembl ID | ENSG00000101126 |
| UniProt ID | Q9H2P0 |
| OMIM ID | 611386 |
| HGNC ID | 15766 |
| Aliases | ADNP1, KIAA0784, ADNP-1 |
Description
ADNP encodes a multifunctional protein that acts as a transcription factor and chromatin remodeler. It contains a homeobox domain and a zinc finger motif, and is essential for brain development, neuronal survival, and synaptic plasticity. Mutations in ADNP cause Helsmoortel-Van der Aa syndrome (HVDAS), characterized by autism spectrum disorder, intellectual disability, and facial dysmorphism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Helsmoortel-Van der Aa syndrome (HVDAS) | Loss-of-function mutations in ADNP disrupt chromatin remodeling and gene expression regulation, leading to neurodevelopmental deficits. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | De novo ADNP mutations are among the most common single-gene causes of ASD, impairing neuronal differentiation and synaptic function. | ClinVar, OMIM |
| Intellectual disability | ADNP haploinsufficiency affects cortical development and cognitive function. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 28.5 | High |
| Testis | 15.2 | Medium |
| Heart | 10.1 | Medium |
| Liver | 4.3 | Low |
| Kidney | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.1 | Neuronal model, high expression |
| HeLa (cervical carcinoma) | 12.4 | Moderate expression |
| HEK293 (embryonic kidney) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2157C>T (p.Arg719*) | Nonsense | Rare | Loss of function, truncation |
| c.2188C>T (p.Arg730*) | Nonsense | Rare | Loss of function, truncation |
| c.2213_2214del (p.Tyr738*) | Frameshift | Rare | Loss of function, premature stop |
| c.728A>G (p.Tyr243Cys) | Missense | Rare | Likely damaging, altered DNA binding |
Mutation functional classification
Loss of Function (LOF)
Majority of pathogenic ADNP mutations are loss-of-function (nonsense, frameshift, splice-site), leading to haploinsufficiency and neurodevelopmental disorders.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ADNP.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type ADNP function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SWI/SNF chromatin remodeling complex
• Neuronal differentiation and survival
Protein Summary
The ADNP protein (1102 amino acids) contains a homeobox domain, a zinc finger motif, and a NAP (neuroprotective peptide) region. It interacts with the SWI/SNF chromatin remodeling complex to regulate gene expression. ADNP is essential for axonal transport, dendritic spine formation, and protection against oxidative stress. The NAP peptide (NAPVSIPQ) derived from ADNP has shown neuroprotective properties in preclinical models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADNP2 Knockout HEK293 Cell Line | EDJ-KQ7699 | Human | 22850 | Details Get a Quote |
| ADNP Knockout HEK293 Cell Line | EDJ-KQ12096 | Human | 23394 | Details Get a Quote |
| ADNP2 Knockout A-549 Cell Line | EDJ-KQ33081 | Human | 22850 | Details Get a Quote |
| ADNP2 Knockout HCT 116 Cell Line | EDJ-KQ33082 | Human | 22850 | Details Get a Quote |
| ADNP2 Knockout HeLa Cell Line | EDJ-KQ33083 | Human | 22850 | Details Get a Quote |
| ADNP Knockout A-549 Cell Line | EDJ-KQ40767 | Human | 23394 | Details Get a Quote |
| ADNP Knockout HCT 116 Cell Line | EDJ-KQ40768 | Human | 23394 | Details Get a Quote |
| ADNP Knockout HeLa Cell Line | EDJ-KQ40769 | Human | 23394 | Details Get a Quote |
